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A novel DKC1 mutation, severe combined immunodeficiency (T + B – NK – SCID) and bone marrow transplantation in an infant with Hoyeraal–Hreidarsson syndrome
Author(s) -
Cossu Fausto,
Vulliamy Tom J.,
Marrone Anna,
Badiali Manuela,
Cao Antonio,
Dokal Inderjeet
Publication year - 2002
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2002.03822.x
Subject(s) - dyskeratosis congenita , severe combined immunodeficiency , immunodeficiency , missense mutation , wiskott–aldrich syndrome , transplantation , medicine , bone marrow failure , immunology , bone marrow , mutation , haematopoiesis , biology , immune system , genetics , stem cell , telomere , gene
Summary. X‐linked Hoyeraal–Hreidarsson syndrome (XL‐HHS) is the severe infantile variant of X‐linked dyskeratosis congenita (XL‐DC) and both are due to mutations in the DKC1 gene within Xq28. We report a novel missense mutation in DKC1 exon 3 (T113→C, Ile38Thr) in a Sardinian infant with XL‐HHS in whom the disease was characterized by ‘T + B – NK – ’ severe combined immunodeficiency and bone marrow failure. He underwent sibling bone marrow transplantation using a conditioning regimen (fludarabine, rabbit antithymocyte globulin, low‐dose melphalan) selected according to the HHS/DC phenotype. This was associated with low toxicity, prompt engraftment with adequate immune reconstitution and full donor haemopoiesis.